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Page 1
Balanced Translocations Disrupting SMARCB1 Are Hallmark Recurrent Genetic Alterations in Renal Medullary Carcinomas.
Calderaro J, Masliah-Planchon J, Richer W, Maillot L, Maille P, Mansuy L, Bastien C, de la Taille A, Boussion H, Charpy C, Jourdain A, Bléchet C, Pierron G, Gentien D, Choudat L, Tournigand C, Delattre O, Allory Y, Bourdeaut F. Calderaro J, et al. Among authors: mansuy l. Eur Urol. 2016 Jun;69(6):1055-61. doi: 10.1016/j.eururo.2015.09.027. Epub 2015 Oct 1. Eur Urol. 2016. PMID: 26433572
Sequential Analysis of cfDNA Reveals Clonal Evolution in Patients with Neuroblastoma Receiving ALK-Targeted Therapy.
Bobin C, Iddir Y, Butterworth C, Masliah-Planchon J, Saint-Charles A, Bellini A, Bhalshankar J, Pierron G, Combaret V, Attignon V, André N, Corradini N, Dumont B, Mansuy L, Khanfar C, Klein S, Briandet C, Plantaz D, Millot F, Thouvenin S, Aerts I, Ndounga-Diakou LA, Laghouati S, Abbou S, Jehanno N, Tissot H, Renault S, Baulande S, Raynal V, Bozec L, Bieche I, Delattre O, Berlanga P, Schleiermacher G. Bobin C, et al. Among authors: mansuy l. Clin Cancer Res. 2024 Aug 1;30(15):3316-3328. doi: 10.1158/1078-0432.CCR-24-0753. Clin Cancer Res. 2024. PMID: 38787533 Free PMC article.
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F. Guerrini-Rousseau L, et al. Among authors: mansuy l. Neurooncol Adv. 2024 May 15;6(1):vdae075. doi: 10.1093/noajnl/vdae075. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38962751 Free PMC article.
Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.
Thomson G, Filser M, Guerrini-Rousseau L, Tauziede-Espariat A, Bourneix C, Gauthier-Villars M, Simaga F, Beccaria K, Faure-Conter C, Maureille A, Zattara-Cannoni H, Andre N, Entz-Werle N, Brugieres L, Mansuy L, Denizeau P, Julia S, Ingster O, Lejeune S, Brahimi A, Coupier I, Bonadona V, Delattre O, Masliah-Planchon J, Bourdeaut F. Thomson G, et al. Among authors: mansuy l. Neuro Oncol. 2024 Nov 4;26(11):2102-2112. doi: 10.1093/neuonc/noae122. Neuro Oncol. 2024. PMID: 39093628
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: mansuy l. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
Chemo-immunotherapy with dinutuximab beta in patients with relapsed/progressive high-risk neuroblastoma: does chemotherapy backbone matter?
Raiser P, Schleiermacher G, Gambart M, Dumont B, Defachelles AS, Thebaud E, Tandonnet J, Pasqualini C, Proust S, Entz-Werle N, Aerts I, Ndounga-Diakou LA, Petit A, Puiseux C, Khanfar C, Rouger J, Mansuy L, Benadiba J, Millot F, Pluchart C, Laghouati S, Geoerger B, Vassal G, Valteau-Couanet D, Berlanga P. Raiser P, et al. Among authors: mansuy l. Eur J Cancer. 2024 May;202:114001. doi: 10.1016/j.ejca.2024.114001. Epub 2024 Mar 11. Eur J Cancer. 2024. PMID: 38489858 Free article.
Transmission of germline TP53 mutations from male carriers to female partners.
Patrier-Sallebert S, Bougeard G, Baert-Desurmont S, Lamy A, Flaman JM, Mansuy L, Bronner M, Lasset C, Brugières L, Golfier F, Frebourg T. Patrier-Sallebert S, et al. Among authors: mansuy l. J Med Genet. 2015 Mar;52(3):145-6. doi: 10.1136/jmedgenet-2014-102853. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612911 No abstract available.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G. Renaux-Petel M, et al. Among authors: mansuy l. J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25. J Med Genet. 2018. PMID: 29070607
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.
Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T. Baert-Desurmont S, et al. Among authors: mansuy l. Eur J Hum Genet. 2016 Jan;24(1):99-105. doi: 10.1038/ejhg.2015.72. Epub 2015 Apr 15. Eur J Hum Genet. 2016. PMID: 25873010 Free PMC article.
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: mansuy l. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
166 results